A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16975265



Internal ID50898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:158909782..158916502hg38UCSC Ensembl
chr5:158336790..158343510hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg386721
hg196721
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5459945
Supporting Variants
Samples
Known GenesEBF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16975265
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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